Bestrophin

Bestrophin is a family of proteins that are encoded by the BEST1 gene in humans. These proteins are known to be involved in the regulation of cellular volume. Mutations in this gene are associated with vitelliform macular dystrophy, a type of eye disorder.

Function

Bestrophin proteins are thought to function as calcium-activated chloride channels. They are involved in the regulation of cellular volume, which is crucial for maintaining the structural integrity of cells.

Clinical significance

Mutations in the BEST1 gene are associated with a number of eye disorders, including vitelliform macular dystrophy, adult-onset vitelliform macular dystrophy, and autosomal recessive bestrophinopathy. These conditions are characterized by the accumulation of yellowish deposits in the macula, which can lead to vision loss.

See also

• Vitelliform macular dystrophy
• Best1 (gene)
• Chloride channel

External links

• GeneReviews/NCBI/NIH/UW entry on Bestrophinopathy, Autosomal Recessive
• OMIM entries on Bestrophinopathy, Autosomal Recessive

Bestrophin Resources
Latest articles Most recent articles Ongoing trials	Wikipedia